POU2AF1 POU class 2 homeobox associating factor 1

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: POU2AF1
Type: protein-coding
Description: POU class 2 homeobox associating factor 1
Entrez Gene ID: 5450
Genome: hg19
Position: chr11:111,222,980-111,250,000
Genome: hg38
Position: chr11:111,352,255-111,379,275
MIM: 601206 OMIM
HGNC: HGNC:9211 HGNC
Ensembl: ENSG00000110777 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Benign	0	26
Likely benign	0	4
Uncertain significance	0	24

Ranking

	ClinVar
	0
	0
	0
	54
	0

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

[No Data.]

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

Search Word

Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Search Word

Target data	:	MGeND data only
Category	:
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	BOB1
SYNONYM	OBF-1
SYNONYM	OBF1
SYNONYM	OCAB
MIM	601206 OMIM
HGNC	HGNC:9211 HGNC
Ensembl	ENSG00000110777 Ensembl
AllianceGenome	HGNC:9211

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000393067.8	hg38	chr11	111,352,255	111,379,275	27,021
ENST00000393067.8	hg19	chr11	111,222,980	111,250,000	27,021

Key	Value
strand	-
UniProt	OG
start	111,222,980
Gene Symbol	POU2AF1
Entrez GeneId	5,450
Chr Band	11q23.1
end	111,250,156
chr	chr11
Name	POU domain, class 2, associating factor 1 (OBF1)

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